PPAT Gene Summary [Human]

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]

Details

Type
Protein Coding
Official Symbol
PPAT
Official Name
phosphoribosyl pyrophosphate amidotransferase [Source:HGNC Symbol;Acc:HGNC:9238]
Ensembl ID
ENSG00000128059
Bio databases IDs NCBI: 5471 Ensembl: ENSG00000128059
Aliases phosphoribosyl pyrophosphate amidotransferase
Synonyms 5730454C12RIK, AA408689, AA675351, ATASE, C79945, GPAT, phosphoribosyl pyrophosphate amidotransferase, PRAT
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPAT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Glutamine amidotransferase domain
  • amidophosphoribosyltransferase
  • Phosphoribosyl transferase (PRT)-type I domain
  • enzyme
  • protein binding
  • identical protein binding
  • Gn_AT_II

Pathways

Biological processes and signaling networks where the PPAT gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • acute lymphoblastic lymphoma
  • interstitial lung disease
  • precursor B-cell acute lymphoblastic leukemia
  • inflammatory cardiomyopathy
  • Philadelphia-like B-cell acute lymphoblastic leukemia
  • leukemia
  • acute lymphoblastic leukemia
  • B-cell childhood acute lymphoblastic leukemia
  • childhood acute lymphoblastic leukemia
  • Crohn disease
regulated by
regulates
  • triacylglycerol
  • purine nucleotide
  • glutamine
  • GMP
role in cell
  • growth
  • proliferation
  • cell death
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PPAT gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • 'de novo' AMP biosynthetic process
  • purine nucleotide biosynthetic process
  • 'de novo' IMP biosynthetic process
  • glutamine metabolic process
  • purine base biosynthetic process
  • GMP biosynthetic process
  • 'de novo' XMP biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • metal ion binding
  • amidophosphoribosyltransferase activity
  • 4 iron, 4 sulfur cluster binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.